Article
Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation.
Neuromuscular disorders : NMD - 1 Feb 2026
Bektaş Hatice, Şener Nagihan, Bilgin Neslihan, Ürel Demir Gizem, Öncel İbrahim, Öztoprak Ülkühan, Temuçin Çağrı Mesut, Şimşek Kiper Pelin Özlem, Utine Gülen Eda, Haliloğlu Göknur
Abstract excerpt
IGHMBP2-related disorders comprise a clinical spectrum from spinal muscular atrophy with respiratory distress type 1 (SMARD1) to Charcot-Marie-Tooth disease type 2S, with increasingly recognized atypical and overlapping phenotypes. We report four pediatric cases from three unrelated families with biallelic pathogenic variants in IGHMBP2. Case 1, a premature infant represents SMARD1. Case 2 had infantile-onset...
Topics
- Humans
- Charcot-Marie-Tooth Disease
- DNA-Binding Proteins
- Guillain-Barre Syndrome
- Muscular Atrophy, Spinal
- Phenotype
- Transcription Factors
- Respiratory Distress Syndrome, Newborn